Clinical Domain Working Groups

The Skeletal Disorders Gene Curation Expert Panel will focus on defining the strength of evidence supporting gene-disease associations with various Skeletal Disorders. The genes being examined were selected by expert consensus, the current literature and by reviewing information of multi-gene sequencing panels marketed for Skeletal Disorders and Skeletal Dysplasia from the Genetic Testing Registry (GTR). 

This query provided a list of 437 genes drawn from the most recent nosology publication (Mortier et al. 2019). Our initial focus will be on 9 of the most common genes associated with Skeletal Dysplasia. Most of the genes have multiple disease assertions, all of which will be curated in our first round after lumping and splitting assessment. The group is ultimately planning on evaluating all genes listed in the nosology (437), on clinical testing panels marketed for Skeletal Disorders as well as those from other clinical sources.

Gene list: COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, SOX9, COL1A1, COL1A2